Mutagenetix > Incidental Mutation

Incidental Mutation 'R7111:Agap3'

551505

Institutional Source

Beutler Lab

Gene Symbol

Agap3

Ensembl Gene

ENSMUSG00000023353

Gene Name

ArfGAP with GTPase domain, ankyrin repeat and PH domain 3

Synonyms

Centg3, MRIP-1, Crag

MMRRC Submission

045203-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R7111 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24657175-24707045 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24706396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 843 (Y843C)

Ref Sequence

ENSEMBL: ENSMUSP00000024123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024123] [ENSMUST00000088311]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000024123
AA Change: Y843C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024123
Gene: ENSMUSG00000023353
AA Change: Y843C

Domain	Start	End	E-Value	Type
low complexity region	4	59	N/A	INTRINSIC
Pfam:Ras	128	286	1.2e-18	PFAM
low complexity region	328	345	N/A	INTRINSIC
PH	403	642	2.76e-16	SMART
ArfGap	661	781	9.17e-51	SMART
ANK	820	849	2.43e1	SMART
ANK	853	885	9.17e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000088311

SMART Domains

Protein: ENSMUSP00000085651
Gene: ENSMUSG00000067724

Domain	Start	End	E-Value	Type
low complexity region	21	34	N/A	INTRINSIC
low complexity region	64	83	N/A	INTRINSIC
low complexity region	113	136	N/A	INTRINSIC
low complexity region	181	191	N/A	INTRINSIC
low complexity region	257	296	N/A	INTRINSIC
low complexity region	302	314	N/A	INTRINSIC
HOX	316	378	3.54e-27	SMART

Predicted Effect

Meta Mutation Damage Score

0.9287

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	G	19: 57,062,309 (GRCm39)	N384T	probably benign	Het
Aldh9a1	T	A	1: 167,182,021 (GRCm39)	V118E	probably benign	Het
Arhgef26	T	A	3: 62,252,689 (GRCm39)	S414T	possibly damaging	Het
Armc9	T	C	1: 86,087,717 (GRCm39)	Y18H	probably damaging	Het
Bod1l	A	G	5: 41,970,463 (GRCm39)		probably null	Het
Casp1	A	T	9: 5,299,816 (GRCm39)	E96D	probably benign	Het
Ccdc171	A	G	4: 83,611,998 (GRCm39)	I898V	probably benign	Het
Cd79b	T	C	11: 106,205,365 (GRCm39)	I42M	possibly damaging	Het
Cdca7	G	A	2: 72,315,575 (GRCm39)	R346H	probably damaging	Het
Cdh20	T	C	1: 110,065,638 (GRCm39)	S176P		Het
Cdh23	T	A	10: 60,222,823 (GRCm39)	D1200V	probably damaging	Het
Cdkn1c	T	C	7: 143,014,326 (GRCm39)	D40G	possibly damaging	Het
Ckap5	G	A	2: 91,437,917 (GRCm39)	R1666H	probably damaging	Het
Cxcl1	A	G	5: 91,039,182 (GRCm39)	T5A	unknown	Het
Dnah2	A	C	11: 69,337,579 (GRCm39)		probably null	Het
Dnai3	T	C	3: 145,803,028 (GRCm39)	I54M	probably damaging	Het
Ephb3	A	T	16: 21,037,577 (GRCm39)	K500*	probably null	Het
Fam13c	T	A	10: 70,390,336 (GRCm39)	H533Q	probably benign	Het
Fat4	T	A	3: 39,064,682 (GRCm39)	D4879E	probably damaging	Het
Grk6	G	T	13: 55,606,733 (GRCm39)	W511L	probably damaging	Het
Hivep3	G	C	4: 119,952,431 (GRCm39)	S249T	possibly damaging	Het
Iqch	T	A	9: 63,419,599 (GRCm39)	Y496F	possibly damaging	Het
Itga2	T	C	13: 115,037,066 (GRCm39)	I21V	unknown	Het
Itpr2	A	T	6: 146,226,554 (GRCm39)	C1397S	probably damaging	Het
Krt86	A	T	15: 101,374,498 (GRCm39)	Y297F	possibly damaging	Het
Limch1	G	T	5: 67,182,519 (GRCm39)		probably null	Het
Mfsd6	G	T	1: 52,748,917 (GRCm39)		probably null	Het
Mx1	A	G	16: 97,256,376 (GRCm39)	V181A	probably damaging	Het
Nme8	G	A	13: 19,859,817 (GRCm39)	R268W	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or10p1	T	A	10: 129,443,829 (GRCm39)	I174F	possibly damaging	Het
Or5d36	G	A	2: 87,901,000 (GRCm39)	T242I	probably damaging	Het
Pappa2	T	A	1: 158,784,096 (GRCm39)	I305F	probably benign	Het
Pdlim3	A	G	8: 46,370,539 (GRCm39)	K232E	probably damaging	Het
Rcn1	T	C	2: 105,219,359 (GRCm39)	E278G	probably damaging	Het
Ros1	T	C	10: 52,057,906 (GRCm39)	D47G	probably benign	Het
Sema4c	G	A	1: 36,592,160 (GRCm39)	T229M	possibly damaging	Het
Serpina3j	T	A	12: 104,283,792 (GRCm39)	W297R	probably damaging	Het
Serpinb11	A	G	1: 107,304,614 (GRCm39)	E193G	probably benign	Het
Shank2	A	G	7: 143,965,289 (GRCm39)	I966V	probably benign	Het
Siglece	T	C	7: 43,309,327 (GRCm39)	D77G	probably damaging	Het
Sqstm1	G	T	11: 50,093,418 (GRCm39)	Q327K	probably benign	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Styxl2	T	C	1: 165,954,723 (GRCm39)	E9G	possibly damaging	Het
Svep1	A	T	4: 58,118,207 (GRCm39)	D838E	possibly damaging	Het
Tacc2	G	A	7: 130,330,618 (GRCm39)	A191T	probably benign	Het
Tnfrsf18	T	A	4: 156,113,168 (GRCm39)	W285R	probably damaging	Het
Tspan9	T	C	6: 127,942,726 (GRCm39)	D167G	probably null	Het
Uaca	C	T	9: 60,779,120 (GRCm39)	T1169I	probably benign	Het
Umod	G	T	7: 119,076,369 (GRCm39)	Y132*	probably null	Het
Vmn2r31	A	G	7: 7,399,480 (GRCm39)	F159S	probably damaging	Het
Vmn2r82	C	T	10: 79,214,605 (GRCm39)	T196I	probably benign	Het
Wrap53	A	T	11: 69,453,305 (GRCm39)	W379R	probably damaging	Het
Zfp866	A	T	8: 70,219,221 (GRCm39)	V133D	probably benign	Het

Other mutations in Agap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00574:Agap3	APN	5	24,703,107 (GRCm39)	missense	probably damaging	0.99
IGL00900:Agap3	APN	5	24,681,366 (GRCm39)	splice site	probably benign
IGL00966:Agap3	APN	5	24,706,000 (GRCm39)	splice site	probably benign
IGL02207:Agap3	APN	5	24,704,934 (GRCm39)	missense	probably benign
IGL02431:Agap3	APN	5	24,706,010 (GRCm39)	missense	probably damaging	1.00
IGL02601:Agap3	APN	5	24,688,369 (GRCm39)	missense	possibly damaging	0.67
IGL03090:Agap3	APN	5	24,706,204 (GRCm39)	missense	possibly damaging	0.91
IGL03131:Agap3	APN	5	24,682,130 (GRCm39)	missense	probably benign	0.16
IGL03247:Agap3	APN	5	24,692,820 (GRCm39)	missense	probably damaging	1.00
R0165:Agap3	UTSW	5	24,684,743 (GRCm39)	missense	probably damaging	0.98
R0344:Agap3	UTSW	5	24,656,200 (GRCm39)	unclassified	probably benign
R0496:Agap3	UTSW	5	24,706,241 (GRCm39)	missense	probably damaging	1.00
R0542:Agap3	UTSW	5	24,705,184 (GRCm39)	missense	possibly damaging	0.95
R1427:Agap3	UTSW	5	24,681,691 (GRCm39)	missense	probably benign	0.03
R1840:Agap3	UTSW	5	24,705,229 (GRCm39)	missense	probably damaging	1.00
R1903:Agap3	UTSW	5	24,698,011 (GRCm39)	missense	probably damaging	1.00
R2101:Agap3	UTSW	5	24,692,797 (GRCm39)	missense	probably damaging	1.00
R4601:Agap3	UTSW	5	24,681,406 (GRCm39)	missense	probably damaging	1.00
R4745:Agap3	UTSW	5	24,656,123 (GRCm39)	splice site	probably null
R4807:Agap3	UTSW	5	24,682,114 (GRCm39)	missense	probably damaging	1.00
R4808:Agap3	UTSW	5	24,706,243 (GRCm39)	missense	probably benign
R4916:Agap3	UTSW	5	24,683,011 (GRCm39)	missense	probably damaging	0.98
R5056:Agap3	UTSW	5	24,682,860 (GRCm39)	missense	probably damaging	1.00
R5094:Agap3	UTSW	5	24,656,319 (GRCm39)	unclassified	probably benign
R5646:Agap3	UTSW	5	24,688,395 (GRCm39)	missense	probably benign	0.01
R5937:Agap3	UTSW	5	24,682,815 (GRCm39)	missense	probably damaging	0.99
R6365:Agap3	UTSW	5	24,679,983 (GRCm39)	missense	probably benign	0.43
R6798:Agap3	UTSW	5	24,703,280 (GRCm39)	splice site	probably null
R6802:Agap3	UTSW	5	24,692,791 (GRCm39)	missense	possibly damaging	0.87
R6863:Agap3	UTSW	5	24,657,462 (GRCm39)	nonsense	probably null
R6863:Agap3	UTSW	5	24,657,461 (GRCm39)	missense	possibly damaging	0.63
R7039:Agap3	UTSW	5	24,688,399 (GRCm39)	missense	probably benign	0.01
R7313:Agap3	UTSW	5	24,657,382 (GRCm39)	missense	probably benign	0.25
R7791:Agap3	UTSW	5	24,681,411 (GRCm39)	missense	probably damaging	1.00
R8124:Agap3	UTSW	5	24,683,128 (GRCm39)	missense	probably benign	0.02
R8293:Agap3	UTSW	5	24,692,883 (GRCm39)	missense	probably damaging	1.00
R8907:Agap3	UTSW	5	24,679,629 (GRCm39)	missense	probably benign
R9127:Agap3	UTSW	5	24,681,439 (GRCm39)	splice site	probably benign
R9694:Agap3	UTSW	5	24,682,139 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CATGGCCAATGTGGTGTTC -3'
(R):5'- TTGCTCTGCTGCAGCTCAAC -3'

Sequencing Primer
(F):5'- TCACACAGCTGCTCATCTGGG -3'
(R):5'- ATACTAGGGCTGCGGTGC -3'

Posted On

2019-05-15